Eur J Pediatr. 1995 Aug;154(8):658-61.

Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance.

Lacombe D, Patton MA, Elleau C, Battin J.

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Department of Paediatric Genetics, Pellegrin-Children's Hospital, Bordeaux, France.

Abstract

The Floating-Harbor syndrome is a growth retardation syndrome with delayed bone age, speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. We present an additional patient and review 16 cases from the literature. The possible phenotype in the patient's mother suggests a dominant mode of inheritance for the syndrome. CONCLUSION: The Floating Harbor syndrome is a growth deficiency syndrome characterized by proportionate short stature, characteristic face and delayed speech development. Inheritance is possibly autosomal dominant.

PMID:: 7588969; [PubMed - indexed for MEDLINE]

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Cited by 1 PubMed Central article

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. [Am J Hum Genet. 2012]
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, et al. Am J Hum Genet. 2012 Feb 10; 90(2):308-13. Epub 2012 Jan 19.

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Eur J Pediatr. 1995 Aug ;154(8):658-61.

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